Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
..Starting node
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Photophobia (HP:0000613)help
Term ID: 613
Name: Photophobia
Synonym: Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria
Definition: Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Comments:
Reference: HP:0000613
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal consumption behavior (HP:0040202) help
..expandAbnormal emotion/affect behavior (HP:0100851) help
..expandAbnormal social behavior (HP:0012433) help
..expandAbnormal temper tantrums (HP:0025160) help
..expandAddictive behavior (HP:0030858) help
..expandAutistic behavior (HP:0000729) help
..expandDelusions (HP:0000746) help
..expandDrooling (HP:0002307) help
..expandEcholalia (HP:0010529) help
..expandHallucinations (HP:0000738) help
..expandHyperorality (HP:0000710) help
..expandImpairment in personality functioning (HP:0031466) help
..expandInflexible adherence to routines or rituals (HP:0000732) help
..expandLack of insight (HP:0000757) help
..expandLack of spontaneous play (HP:0000721) help
..expandLow frustration tolerance (HP:0000744) help
..expandMania (HP:0100754) help
..expandMutism (HP:0002300) help
..expandObsessive-compulsive behavior (HP:0000722) help
..expandobsolete Psychomotor retardation (HP:0025356) help
..expandOppositional defiant disorder (HP:0010865) help
..expandPerseveration (HP:0030223) help
..expandPersonality changes (HP:0000751) help
..expandPseudobulbar behavioral symptoms (HP:0002193) help
..expandPsychosis (HP:0000709) help
..expandRestlessness (HP:0000711) help
..expandSchizophrenia (HP:0100753) help
..expandSelf-neglect (HP:0025479) help
..expandShort attention span (HP:0000736) help
..expandSleep disturbance (HP:0002360) help
..expandSound sensitivity (HP:0025112) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000613HP:0000613Photophobia0ABCA4 CL E G H2434ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent826
HP:0000613HP:0000613Photophobia0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000613HP:0000613Photophobia0ADAM9 CL E G H8754216ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent41
HP:0000613HP:0000613Photophobia0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000613HP:0000613Photophobia0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000613HP:0000613Photophobia0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000613HP:0000613Photophobia0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000613HP:0000613Photophobia0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0000613HP:0000613Photophobia0AIPL1 CL E G H23746359ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent114
HP:0000613HP:0000613Photophobia0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0000613HP:0000613Photophobia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0000613HP:0000613Photophobia0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0000613HP:0000613Photophobia0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000613HP:0000613Photophobia0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000613HP:0000613Photophobia0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000613HP:0000613Photophobia0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000613HP:0000613Photophobia0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000613HP:0000613Photophobia0AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafnessHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000613HP:0000613Photophobia0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000613HP:0000613Photophobia0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000613HP:0000613Photophobia0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0000613HP:0000613Photophobia0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000613HP:0000613Photophobia0ATF6 CL E G H22926791ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent10
HP:0000613HP:0000613Photophobia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040283 - Occasional8
HP:0000613HP:0000613Photophobia0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000613HP:0000613Photophobia0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000613HP:0000613Photophobia0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000613HP:0000613Photophobia0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000613HP:0000613Photophobia0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0000613HP:0000613Photophobia0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000613HP:0000613Photophobia0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive.94
HP:0000613HP:0000613Photophobia0CACNA1F CL E G H7781393ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent58
HP:0000613HP:0000613Photophobia0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 3HP:0040283 - Occasional58
HP:0000613HP:0000613Photophobia0CACNA2D4 CL E G H9358920202ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent129
HP:0000613HP:0000613Photophobia0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4.129
HP:0000613HP:0000613Photophobia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000613HP:0000613Photophobia0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H9221114550ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent147
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000613HP:0000613Photophobia0CEP250 CL E G H111901859OMIM:618358CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000613HP:0000613Photophobia0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0000613HP:0000613Photophobia0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000613HP:0000613Photophobia0CFAP410 CL E G H7551260ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0CFAP410 CL E G H7551260OMIM:617547Retinal dystrophy with or without macular staphyloma.
HP:0000613HP:0000613Photophobia0CFAP418 CL E G H15765727232ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000613HP:0000613Photophobia0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0000613HP:0000613Photophobia0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0000613HP:0000613Photophobia0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040283 - Occasional129
HP:0000613HP:0000613Photophobia0CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1.129
HP:0000613HP:0000613Photophobia0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000613HP:0000613Photophobia0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000613HP:0000613Photophobia0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040282 - Frequent
HP:0000613HP:0000613Photophobia0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 2.82
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H12612150ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent82
HP:0000613HP:0000613Photophobia0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H547142153ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent194
HP:0000613HP:0000613Photophobia0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome.61
HP:0000613HP:0000613Photophobia0CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:0000613HP:0000613Photophobia0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040282 - Frequent129
HP:0000613HP:0000613Photophobia0COL17A1 CL E G H13082194OMIM:122400Epithelial recurrent erosion dystrophy.129
HP:0000613HP:0000613Photophobia0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0000613HP:0000613Photophobia0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0000613HP:0000613Photophobia0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000613HP:0000613Photophobia0CRX CL E G H14062383ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent158
HP:0000613HP:0000613Photophobia0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7.158
HP:0000613HP:0000613Photophobia0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000613HP:0000613Photophobia0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple typesHP:0040283 - Occasional11
HP:0000613HP:0000613Photophobia0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518OMIM:219750Cystinosis, adult nonnephropathic.178
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040282 - Frequent178
HP:0000613HP:0000613Photophobia0CTNS CL E G H14972518ORPHA:411641Ocular cystinosisHP:0040281 - Very frequent178
HP:0000613HP:0000613Photophobia0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000613HP:0000613Photophobia0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0000613HP:0000613Photophobia0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0000613HP:0000613Photophobia0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000613HP:0000613Photophobia0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0000613HP:0000613Photophobia0DRAM2 CL E G H12833828769ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0000613HP:0000613Photophobia0DRAM2 CL E G H12833828769OMIM:616502Cone-Rod dystrophy 21HP:0040283 - Occasional9
HP:0000613HP:0000613Photophobia0EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 1.3
HP:0000613HP:0000613Photophobia0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0000613HP:0000613Photophobia0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features.
HP:0000613HP:0000613Photophobia0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040283 - Occasional170
HP:0000613HP:0000613Photophobia0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000613HP:0000613Photophobia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000613HP:0000613Photophobia0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0000613HP:0000613Photophobia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000613HP:0000613Photophobia0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0000613HP:0000613Photophobia0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0000613HP:0000613Photophobia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000613HP:0000613Photophobia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000613HP:0000613Photophobia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000613HP:0000613Photophobia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000613HP:0000613Photophobia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000613HP:0000613Photophobia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000613HP:0000613Photophobia0ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 1.13
HP:0000613HP:0000613Photophobia0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000613HP:0000613Photophobia0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25.209
HP:0000613HP:0000613Photophobia0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000613HP:0000613Photophobia0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0000613HP:0000613Photophobia0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040281 - Very frequent20
HP:0000613HP:0000613Photophobia0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0000613HP:0000613Photophobia0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000613HP:0000613Photophobia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0000613HP:0000613Photophobia0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0000613HP:0000613Photophobia0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000613HP:0000613Photophobia0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000613HP:0000613Photophobia0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0000613HP:0000613Photophobia0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000613HP:0000613Photophobia0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H27804394ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent19
HP:0000613HP:0000613Photophobia0GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1H.5
HP:0000613HP:0000613Photophobia0GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I.64
HP:0000613HP:0000613Photophobia0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent64
HP:0000613HP:0000613Photophobia0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0000613HP:0000613Photophobia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000613HP:0000613Photophobia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H29784678OMIM:602093Cone dystrophy 3.24
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H29784678ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent24
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H29784678ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent24
HP:0000613HP:0000613Photophobia0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H30004689ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent124
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6.124
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000613HP:0000613Photophobia0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000613HP:0000613Photophobia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent99
HP:0000613HP:0000613Photophobia0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0000613HP:0000613Photophobia0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000613HP:0000613Photophobia0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 79.11
HP:0000613HP:0000613Photophobia0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040282 - Frequent4
HP:0000613HP:0000613Photophobia0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0000613HP:0000613Photophobia0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040283 - Occasional4
HP:0000613HP:0000613Photophobia0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0000613HP:0000613Photophobia0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0000613HP:0000613Photophobia0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0000613HP:0000613Photophobia0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6HP:0040284 - Very rare45
HP:0000613HP:0000613Photophobia0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000613HP:0000613Photophobia0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0000613HP:0000613Photophobia0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000613HP:0000613Photophobia0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000613HP:0000613Photophobia0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000613HP:0000613Photophobia0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0000613HP:0000613Photophobia0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0000613HP:0000613Photophobia0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000613HP:0000613Photophobia0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000613HP:0000613Photophobia0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000613HP:0000613Photophobia0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0000613HP:0000613Photophobia0ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.3
HP:0000613HP:0000613Photophobia0KCNJ13 CL E G H37696259OMIM:614186Leber congenital amaurosis 16.42
HP:0000613HP:0000613Photophobia0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000613HP:0000613Photophobia0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000613HP:0000613Photophobia0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000613HP:0000613Photophobia0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0KRT12 CL E G H38596414OMIM:122100Meesmann corneal dystrophy 1.22
HP:0000613HP:0000613Photophobia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0000613HP:0000613Photophobia0KRT3 CL E G H38506440OMIM:618767CORNEAL DYSTROPHY, MEESMANN, 2; MECD23
HP:0000613HP:0000613Photophobia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0000613HP:0000613Photophobia0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000613HP:0000613Photophobia0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0000613HP:0000613Photophobia0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000613HP:0000613Photophobia0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000613HP:0000613Photophobia0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0000613HP:0000613Photophobia0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000613HP:0000613Photophobia0LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D.123
HP:0000613HP:0000613Photophobia0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0000613HP:0000613Photophobia0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0000613HP:0000613Photophobia0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000613HP:0000613Photophobia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000613HP:0000613Photophobia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040281 - Very frequent22
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000613HP:0000613Photophobia0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0000613HP:0000613Photophobia0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0000613HP:0000613Photophobia0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0000613HP:0000613Photophobia0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0000613HP:0000613Photophobia0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000613HP:0000613Photophobia0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5HP:0040283 - Occasional26
HP:0000613HP:0000613Photophobia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000613HP:0000613Photophobia0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000613HP:0000613Photophobia0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000613HP:0000613Photophobia0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0000613HP:0000613Photophobia0NMNAT1 CL E G H6480217877ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent15
HP:0000613HP:0000613Photophobia0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9HP:0040283 - Occasional15
HP:0000613HP:0000613Photophobia0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040282 - Frequent187
HP:0000613HP:0000613Photophobia0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000613HP:0000613Photophobia0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000613HP:0000613Photophobia0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000613HP:0000613Photophobia0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000613HP:0000613Photophobia0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0000613HP:0000613Photophobia0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000613HP:0000613Photophobia0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040283 - Occasional7
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H59569936ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent7
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatismHP:0040283 - Occasional5
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H26524206ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent5
HP:0000613HP:0000613Photophobia0OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040283 - Occasional3
HP:0000613HP:0000613Photophobia0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000613HP:0000613Photophobia0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0000613HP:0000613Photophobia0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0000613HP:0000613Photophobia0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000613HP:0000613Photophobia0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000613HP:0000613Photophobia0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0000613HP:0000613Photophobia0PDE6C CL E G H51468787OMIM:613093Cone dystrophy 4.80
HP:0000613HP:0000613Photophobia0PDE6C CL E G H51468787ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent80
HP:0000613HP:0000613Photophobia0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000613HP:0000613Photophobia0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0000613HP:0000613Photophobia0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A.14
HP:0000613HP:0000613Photophobia0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040283 - Occasional
HP:0000613HP:0000613Photophobia0PIKFYVE CL E G H20057623785OMIM:121850Corneal fleck dystrophy.112
HP:0000613HP:0000613Photophobia0PITPNM3 CL E G H8339421043ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent135
HP:0000613HP:0000613Photophobia0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5.135
HP:0000613HP:0000613Photophobia0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040282 - Frequent5
HP:0000613HP:0000613Photophobia0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0000613HP:0000613Photophobia0POC1B CL E G H28280930836ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent3
HP:0000613HP:0000613Photophobia0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0000613HP:0000613Photophobia0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0000613HP:0000613Photophobia0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0000613HP:0000613Photophobia0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000613HP:0000613Photophobia0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000613HP:0000613Photophobia0PROM1 CL E G H88429454ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent110
HP:0000613HP:0000613Photophobia0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000613HP:0000613Photophobia0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000613HP:0000613Photophobia0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000613HP:0000613Photophobia0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000613HP:0000613Photophobia0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000613HP:0000613Photophobia0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942OMIM:613105Choroidal dystrophy, central areolar 2.159
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent159
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1HP:0040283 - Occasional159
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942OMIM:608161Macular dystrophy, vitelliform, 3.159
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0000613HP:0000613Photophobia0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0000613HP:0000613Photophobia0RAB28 CL E G H93649768ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent6
HP:0000613HP:0000613Photophobia0RAX2 CL E G H8483918286ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent52
HP:0000613HP:0000613Photophobia0RAX2 CL E G H8483918286OMIM:610381Cone-Rod dystrophy 11HP:0040283 - Occasional52
HP:0000613HP:0000613Photophobia0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000613HP:0000613Photophobia0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000613HP:0000613Photophobia0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0000613HP:0000613Photophobia0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000613HP:0000613Photophobia0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000613HP:0000613Photophobia0RGS9 CL E G H878710004ORPHA:75374BradyopsiaHP:0040281 - Very frequent9
HP:0000613HP:0000613Photophobia0RGS9BP CL E G H38853130304ORPHA:75374BradyopsiaHP:0040281 - Very frequent6
HP:0000613HP:0000613Photophobia0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000613HP:0000613Photophobia0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0000613HP:0000613Photophobia0RIMS1 CL E G H2299917282ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent102
HP:0000613HP:0000613Photophobia0RIMS2 CL E G H969917283OMIM:618970CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS2
HP:0000613HP:0000613Photophobia0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000613HP:0000613Photophobia0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0000613HP:0000613Photophobia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000613HP:0000613Photophobia0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000613HP:0000613Photophobia0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000613HP:0000613Photophobia0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000613HP:0000613Photophobia0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000613HP:0000613Photophobia0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000613HP:0000613Photophobia0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000613HP:0000613Photophobia0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000613HP:0000613Photophobia0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0000613HP:0000613Photophobia0RPGR CL E G H610310295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent200
HP:0000613HP:0000613Photophobia0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0000613HP:0000613Photophobia0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000613HP:0000613Photophobia0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H5709613436ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent109
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H5709613436OMIM:608194CONE-ROD DYSTROPHY 13; CORD13109
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0000613HP:0000613Photophobia0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0000613HP:0000613Photophobia0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000613HP:0000613Photophobia0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 3.1053
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H6421810729ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent48
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 10.48
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000613HP:0000613Photophobia0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040281 - Very frequent63
HP:0000613HP:0000613Photophobia0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0000613HP:0000613Photophobia0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI.12
HP:0000613HP:0000613Photophobia0SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 6HP:0040281 - Very frequent12
HP:0000613HP:0000613Photophobia0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0000613HP:0000613Photophobia0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0000613HP:0000613Photophobia0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040282 - Frequent12
HP:0000613HP:0000613Photophobia0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000613HP:0000613Photophobia0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000613HP:0000613Photophobia0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000613HP:0000613Photophobia0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000613HP:0000613Photophobia0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0000613HP:0000613Photophobia0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0000613HP:0000613Photophobia0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000613HP:0000613Photophobia0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0000613HP:0000613Photophobia0TACSTD2 CL E G H407011530OMIM:204870Corneal dystrophy, gelatinous drop-like.42
HP:0000613HP:0000613Photophobia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000613HP:0000613Photophobia0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040282 - Frequent43
HP:0000613HP:0000613Photophobia0TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II.58
HP:0000613HP:0000613Photophobia0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0000613HP:0000613Photophobia0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0000613HP:0000613Photophobia0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0000613HP:0000613Photophobia0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040282 - Frequent58
HP:0000613HP:0000613Photophobia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0000613HP:0000613Photophobia0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome.15
HP:0000613HP:0000613Photophobia0TLCD3B CL E G H8372325295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0000613HP:0000613Photophobia0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0000613HP:0000613Photophobia0TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 1.7
HP:0000613HP:0000613Photophobia0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000613HP:0000613Photophobia0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000613HP:0000613Photophobia0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0000613HP:0000613Photophobia0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000613HP:0000613Photophobia0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0000613HP:0000613Photophobia0TTLL5 CL E G H2309319963ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0000613HP:0000613Photophobia0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000613HP:0000613Photophobia0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness
HP:0000613HP:0000613Photophobia0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000613HP:0000613Photophobia0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000613HP:0000613Photophobia0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0000613HP:0000613Photophobia0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0000613HP:0000613Photophobia0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040282 - Frequent146
HP:0000613HP:0000613Photophobia0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0000613HP:0000613Photophobia0UNC119 CL E G H909412565ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent30
HP:0000613HP:0000613Photophobia0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000613HP:0000613Photophobia0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0000613HP:0000613Photophobia0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51
HP:0000613HP:0000613Photophobia0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000613HP:0000613Photophobia0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0000613HP:0000613Photophobia0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0000613HP:0000613Photophobia0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0000613HP:0000613Photophobia0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0000613HP:0000613Photophobia0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0000613HP:0000613Photophobia0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8
HP:0000613HP:0000613Photophobia0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000613HP:0000613Photophobia0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 72.14
HP:0000613HP:0000613Photophobia0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27


Genes (251) :ABCA4 ADAM9 AFG3L2 AGBL5 AHI1 AHR AHSG AIPL1 AIRE ALDH3A2 ALMS1 ANTXR1 AP1B1 AP3B1 AP3D1 ARHGEF18 ARL2BP ARL3 ARL6 ATF6 ATXN7 BBS1 BBS2 BEST1 BLOC1S5 C1QTNF5 C4A CA4 CABP4 CACNA1F CACNA2D4 CARS1 CCR1 CDHR1 CEP250 CEP78 CERKL CFAP410 CFAP418 CFH CFI CHST6 CLCC1 CLRN1 CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL17A1 COL4A1 COL8A2 CRB1 CRX CRYGC CST6 CTNS DCT DDB2 DHDDS DHX38 DKK1 DRAM2 EDNRA EFEMP1 ELOVL1 EPCAM ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 EYS FAM161A FAS FOXC2 FSCN2 GALC GAN GJA1 GJB2 GJB6 GNAT2 GNB3 GPR143 GRHL2 GTF2E2 GTF2H5 GUCA1A GUCA1B GUCY2D GUSB HADHA HARS1 HGSNAT HK1 HLA-A HLA-B HLA-DRB1 HPS1 HPS6 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT88 IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 ITGB6 ITM2B KCNJ13 KCNV2 KIAA1549 KIZ KLHL7 KLRC4 KRT12 KRT14 KRT3 KRT5 LCA5 LRAT LRMDA LSS LTBP2 LYST MAK MAPT MBTPS2 MC1R MCOLN1 MEFV MERTK MFRP MPLKIP NEK2 NLRP1 NLRP3 NMNAT1 NOD2 NOTCH2NLC NR2E3 NRL OCA2 OFD1 OPN1LW OPN1MW OPN1SW OVOL2 PCARE PCNA PDE6A PDE6B PDE6C PDE6G PDE6H PERCC1 PIKFYVE PITPNM3 PLCD1 PNPLA6 POC1B POLA1 POLH POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP RAB28 RAX2 RBP3 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RIMS2 RLBP1 RNF113A ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SCAPER SCN1A SEMA4A SLC1A3 SLC24A5 SLC39A4 SLC45A2 SLC6A19 SLC7A14 SNRNP200 SPATA7 SREBF1 ST14 STAT4 TACSTD2 TARS1 TAT TGFBI TIMM8A TLCD3B TLR4 TNF TOPORS TP63 TTC8 TTLL5 TUB TUBB4B TULP1 TYR UBAC2 UNC119 USH2A VSX1 WDR45 WNT10A XPA XPC ZEB1 ZNF408 ZNF513

Diseases (179) :ORPHA:1872 ORPHA:791 OMIM:618977 ORPHA:2850 ORPHA:3453 ORPHA:816 OMIM:270200 ORPHA:64 OMIM:203800 OMIM:230740 OMIM:242150 OMIM:608233 ORPHA:1000 ORPHA:54 ORPHA:49382 OMIM:616517 ORPHA:94147 OMIM:619172 ORPHA:67042 ORPHA:117 OMIM:610427 OMIM:300476 OMIM:610478 ORPHA:33364 OMIM:613660 OMIM:618358 OMIM:617236 OMIM:617547 OMIM:614500 ORPHA:75376 ORPHA:98969 OMIM:217800 OMIM:609913 ORPHA:2116 OMIM:216900 OMIM:262300 ORPHA:1871 OMIM:217080 ORPHA:1873 ORPHA:293381 OMIM:122400 OMIM:180000 ORPHA:98973 OMIM:613829 OMIM:604307 OMIM:618535 OMIM:219750 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:411641 OMIM:619165 ORPHA:910 OMIM:278740 ORPHA:268882 OMIM:616502 OMIM:157300 OMIM:618527 ORPHA:92050 ORPHA:90322 OMIM:601675 OMIM:278730 ORPHA:90321 ORPHA:90324 OMIM:602772 ORPHA:33001 OMIM:153400 ORPHA:206436 OMIM:256850 ORPHA:1010 OMIM:148210 ORPHA:477 OMIM:129500 OMIM:613856 OMIM:617024 OMIM:300500 OMIM:602093 OMIM:601777 OMIM:204000 OMIM:253220 ORPHA:5 OMIM:614504 OMIM:617460 ORPHA:179 ORPHA:29207 ORPHA:36426 OMIM:181000 OMIM:203300 OMIM:614075 OMIM:616079 OMIM:614186 OMIM:610356 OMIM:122100 ORPHA:79396 OMIM:618767 ORPHA:364055 OMIM:613341 OMIM:615179 OMIM:613086 ORPHA:167 OMIM:214500 ORPHA:240071 OMIM:601104 ORPHA:2273 OMIM:308205 OMIM:308800 ORPHA:79432 OMIM:252650 ORPHA:578 OMIM:611040 OMIM:617388 OMIM:148200 OMIM:608553 ORPHA:90340 OMIM:619473 OMIM:611131 OMIM:300424 OMIM:303700 ORPHA:16 ORPHA:88629 OMIM:122000 OMIM:615919 ORPHA:438134 OMIM:613093 OMIM:610024 OMIM:121850 OMIM:600977 ORPHA:2387 OMIM:215470 OMIM:301220 ORPHA:90342 OMIM:278750 OMIM:613105 OMIM:169150 OMIM:608161 ORPHA:52427 OMIM:610381 ORPHA:75374 OMIM:618970 OMIM:304020 OMIM:300029 OMIM:608194 OMIM:613826 OMIM:616732 OMIM:609634 OMIM:610283 ORPHA:209967 OMIM:612656 OMIM:113750 ORPHA:370097 ORPHA:37 ORPHA:79435 OMIM:619016 OMIM:158310 OMIM:602400 OMIM:204870 ORPHA:28378 OMIM:602082 OMIM:608470 ORPHA:98962 ORPHA:98964 ORPHA:98960 ORPHA:52368 OMIM:304700 OMIM:619531 OMIM:604292 ORPHA:1896 OMIM:613464 OMIM:617879 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:257980 OMIM:150400 OMIM:278700 OMIM:278720 OMIM:616469
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.